Kühnl P, Spielmann W
Hum Genet. 1979;50(2):221-3. doi: 10.1007/BF00390245.
In a genetic investigation of the population in Hessen, Germany, we found a family with a new, rare allele in the Pi system (alpha 1-antitrypsin). According to electrophoretic analysis and isoelectric focusing patterns, it is designated PiT. A pedigree study suggests autosomal codominant inheritance. The serum concentration of six heterozygous carriers of this allele (phenotype M1T or M2T) revealed normal alpha 1-antitrypsin levels.
在对德国黑森州人群的一项基因研究中,我们发现了一个在Pi系统(α1 - 抗胰蛋白酶)中有新的罕见等位基因的家族。根据电泳分析和等电聚焦图谱,它被命名为PiT。系谱研究表明其为常染色体共显性遗传。该等位基因的六名杂合携带者(表型M1T或M2T)的血清浓度显示α1 - 抗胰蛋白酶水平正常。